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Molecular Genetics and Metabolism Reports|November 30, 2016
Clinical variability in neurohepatic syndrome due to combined mitochondrial DNA depletion and Gaucher diseaseJulie Harvengt, Catherine Wanty, Boel De Paepe, et al.
Plos One|November 11, 2014
A bumpy ride on the diagnostic bench of massive parallel sequencing, the case of the mitochondrial genomeKim Vancampenhout, Ben Caljon, Claudia Spits, et al.
Clinical Pharmacology and Therapeutics|July 9, 2005
High-dose statins and skeletal muscle metabolism in humans: a randomized, controlled trialHannu Päivä, Karin M Thelen, Rudy Van Coster, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|February 21, 2012
Polymerase gamma deficiency (POLG): clinical course in a child with a two stage evolution from infantile myocerebrohepatopathy spectrum to an Alpers syndrome and neuropathological findings of Leigh's encephalopathyEmmanuel Scalais, Baudouin Francois, Patrick Schlesser, et al.
Pediatric Research|December 6, 2005
Diagnostic value of immunostaining in cultured skin fibroblasts from patients with oxidative phosphorylation defectsBoel de Paepe, Joél Smet, Jules G Leroy, et al.
Clinical Genetics|November 14, 2019
Functional characterization of novel MFSD8 pathogenic variants anticipates neurological involvement in juvenile isolated maculopathyMiriam Bauwens, Stephan Storch, Nicole Weisschuh, et al.
Plos One|December 22, 2006
A systems biology strategy reveals biological pathways and plasma biomarker candidates for potentially toxic statin-induced changes in muscleReijo Laaksonen, Mikko Katajamaa, Hannu Päivä, et al.
The Journal of Biological Chemistry|November 26, 2009
Defining the pathogenesis of the human Atp12p W94R mutation using a Saccharomyces cerevisiae yeast modelAnn Meulemans, Sara Seneca, Thomas Pribyl, et al.
Journal of Inherited Metabolic Disease|May 15, 2015
Mutation of the iron-sulfur cluster assembly gene IBA57 causes fatal infantile leukodystrophyFrançois-Guillaume Debray, Claudia Stümpfig, Arnaud V Vanlander, et al.
Plos One|January 18, 2018
Nanoscopic X-ray fluorescence imaging and quantification of intracellular key-elements in cryofrozen Friedreich's ataxia fibroblastsBjörn De Samber, Eline Meul, Brecht Laforce, et al.
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